V82L (p.Val82Leu) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
V82L (p.Val82Leu) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
V82L (p.Val82Leu) variant details
- p.Val82Leu
- rs1375511790
- ClinGen CA359031634
- ClinVar RCV001913938
- TOPMed rs1375511790
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.04
- CADD 21.70
- PolyPhen-2 0.63
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 5.1e-05)
- Structural context available